拉丁美洲某国非裔慢性肾病患者中APOL1风险变异的患病率
Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country.
作者信息
Duran Carlos E, Ramírez Alejandro, Posada Juan G, Schweineberg Johanna, Mesa Liliana, Pachajoa Harry, Estacio Mayra, Manzi Eliana, Aros Vanessa, Díaz Lorena, Garcia Victor H
机构信息
Department of Nephrology, Fundacion Valle del Lili, Cali, Colombia.
Health Sciences Faculty, Icesi University, Cali, Colombia.
出版信息
Int J Nephrol. 2019 Dec 18;2019:7076326. doi: 10.1155/2019/7076326. eCollection 2019.
INTRODUCTION
In Colombia, the genetic background of the populations was shaped by different levels of admixture between Natives, European, and Africans. Approximately 35.363 patients have diagnosed chronic kidney disease and according to population studies, 10.4% of these patients are Afro-descendant. We aim to assess the frequency of APOL1 variants G1 and G2 in Afro-descendant patients with ESRD treated at la Fundacion Valle del Lili University Hospital in Cali, Colombia.
METHODS
This is an observational cross-sectional study. Afro-descendant patients with ESRD in waitlist or recipients of kidney transplant were evaluated. Clinical data were collected from the electronic medical records. Genotyping was carried out by amplification of the exon 7 of the APOL1 gene. For the identification of risk genotypes, the bioinformatics tool BLAST was used.
RESULTS
We enrolled 102 participants. The frequency of APOL1 risk variants was 67.2%, in which 24.5% ( = 25) were G1 heterozygous and 5.8% ( = 6) were G2 heterozygous and 37% of the patients had high-risk status with two alleles in homozygous (G1/G1 = 21 and G2/G2 = 3) or compound heterozygote (G1/G2 = 14) form.
引言
在哥伦比亚，不同人群的遗传背景是由原住民、欧洲人和非洲人之间不同程度的混合所形成的。大约有35363名患者被诊断患有慢性肾病，根据人群研究，这些患者中有10.4%是非洲裔。我们旨在评估在哥伦比亚卡利市的瓦莱德尔利利大学医院接受治疗的终末期肾病非洲裔患者中APOL1基因变体G1和G2的频率。
方法
这是一项观察性横断面研究。对处于等待名单中的终末期肾病非洲裔患者或肾移植受者进行了评估。从电子病历中收集临床数据。通过扩增APOL1基因的外显子7进行基因分型。使用生物信息学工具BLAST来识别风险基因型。
结果
我们招募了102名参与者。APOL1风险变体的频率为67.2%，其中24.5%（n = 25）为G1杂合子，5.8%（n = 6）为G2杂合子，37%的患者具有高风险状态，其两个等位基因呈纯合（G1/G1 = 21和G2/G2 = 3）或复合杂合子（G1/G2 = 14）形式。
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